ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5511G>A (p.Trp1837Ter)

gnomAD frequency: 0.00001  dbSNP: rs745574120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384118 SCV001583503 pathogenic not provided 2023-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071606). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is present in population databases (rs745574120, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Trp1837*) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770).
Baylor Genetics RCV003473950 SCV004193577 likely pathogenic Retinitis pigmentosa 25 2022-07-24 criteria provided, single submitter clinical testing

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